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Aliases for SARDH Gene

Aliases for SARDH Gene

  • Sarcosine Dehydrogenase 2 3
  • DMGDHL1 3 4
  • BPR-2 3 4
  • SARD 3 6
  • SAR 3 6
  • Sarcosine Dehydrogenase, Mitochondrial 3
  • Dimethylglycine Dehydrogenase-Like 1 3
  • EC 1.5.8.3 4
  • SarDH 4
  • SDH 3

External Ids for SARDH Gene

Previous HGNC Symbols for SARDH Gene

  • DMGDHL1

Previous GeneCards Identifiers for SARDH Gene

  • GC09M127604
  • GC09P128054
  • GC09M129954
  • GC09M131870
  • GC09M133558
  • GC09M135518
  • GC09M136528
  • GC09M106029

Summaries for SARDH Gene

Entrez Gene Summary for SARDH Gene

  • This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

GeneCards Summary for SARDH Gene

SARDH (Sarcosine Dehydrogenase) is a Protein Coding gene. Diseases associated with SARDH include sarcosinemia and dimethylglycine dehydrogenase deficiency. Among its related pathways are Metabolism and Glycine, serine and threonine metabolism. GO annotations related to this gene include aminomethyltransferase activity and sarcosine dehydrogenase activity. An important paralog of this gene is PDPR.

Gene Wiki entry for SARDH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SARDH Gene

Genomics for SARDH Gene

Regulatory Elements for SARDH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SARDH Gene

Start:
133,663,560 bp from pter
End:
133,739,955 bp from pter
Size:
76,396 bases
Orientation:
Minus strand

Genomic View for SARDH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SARDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SARDH Gene

Proteins for SARDH Gene

  • Protein details for SARDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL12-SARDH_HUMAN
    Recommended name:
    Sarcosine dehydrogenase, mitochondrial
    Protein Accession:
    Q9UL12
    Secondary Accessions:
    • B2RMR5
    • B4DPI2
    • B7ZLT6
    • Q5SYV0
    • Q9Y280
    • Q9Y2Y3

    Protein attributes for SARDH Gene

    Size:
    918 amino acids
    Molecular mass:
    101037 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD covalently per monomer.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD33412.1; Type=Frameshift; Positions=867; Evidence={ECO:0000305};

    Alternative splice isoforms for SARDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SARDH Gene

Proteomics data for SARDH Gene at MOPED

Post-translational modifications for SARDH Gene

  • Ubiquitination at Lys713, Lys757, and Lys884
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SARDH Gene

Domains for SARDH Gene

Suggested Antigen Peptide Sequences for SARDH Gene

Graphical View of Domain Structure for InterPro Entry

Q9UL12

UniProtKB/Swiss-Prot:

SARDH_HUMAN :
  • Q9UL12
Family:
  • Belongs to the GcvT family.
genes like me logo Genes that share domains with SARDH: view

No data available for Gene Families for SARDH Gene

Function for SARDH Gene

Molecular function for SARDH Gene

GENATLAS Biochemistry:
sarcosine dehydrogenase,catalyzing qlycine synthesis,"one-carbone" metabolism,liver motochondrial flavoenzyme
UniProtKB/Swiss-Prot CatalyticActivity:
Sarcosine + H(2)O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein

Enzyme Numbers (IUBMB) for SARDH Gene

Gene Ontology (GO) - Molecular Function for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004047 aminomethyltransferase activity --
GO:0008480 sarcosine dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with SARDH: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SARDH

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SARDH Gene

Localization for SARDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SARDH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SARDH Gene COMPARTMENTS Subcellular localization image for SARDH gene
Compartment Confidence
mitochondrion 4
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with SARDH: view

Pathways for SARDH Gene

genes like me logo Genes that share pathways with SARDH: view

Pathways by source for SARDH Gene

1 BioSystems pathway for SARDH Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9UL12-SARDH_HUMAN

  • Pathway: Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1

Interacting Proteins for SARDH Gene

Gene Ontology (GO) - Biological Process for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006546 glycine catabolic process --
GO:0008150 biological_process --
GO:0032259 methylation --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SARDH: view

Compounds for SARDH Gene

(11) HMDB Compounds for SARDH Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Flavin Mononucleotide
  • FMN
146-17-8
Formaldehyde
  • Aldeide formica
50-00-0
Glycine
  • 2-Aminoacetate
56-40-6
N1-Acetylspermine
  • N'-Acetylspermine
25593-72-0

(9) Novoseek inferred chemical compound relationships for SARDH Gene

Compound -log(P) Hits PubMed IDs
sarcosine 93.9 21
dimethylglycine 90 5
mannitol 55.2 7
n-ethyl-n-nitrosourea 52.7 1
flavin 51.6 1
genes like me logo Genes that share compounds with SARDH: view

Transcripts for SARDH Gene

Unigene Clusters for SARDH Gene

Sarcosine dehydrogenase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SARDH

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SARDH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for SARDH Gene

GeneLoc Exon Structure for
SARDH
ECgene alternative splicing isoforms for
SARDH

Expression for SARDH Gene

mRNA expression in normal human tissues for SARDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SARDH Gene

This gene is overexpressed in Liver (24.0) and Pancreas (7.3).

Protein differential expression in normal tissues for SARDH Gene

This gene is overexpressed in Gallbladder (32.7) and Liver (22.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SARDH Gene

SOURCE GeneReport for Unigene cluster for SARDH Gene Hs.198003

genes like me logo Genes that share expressions with SARDH: view

Expression partners for SARDH Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SARDH Gene

Orthologs for SARDH Gene

This gene was present in the common ancestor of animals.

Orthologs for SARDH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SARDH 35
  • 86.75 (n)
  • 87.47 (a)
SARDH 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SARDH 35
  • 88.33 (n)
  • 91.14 (a)
SARDH 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sardh 35
  • 85.26 (n)
  • 88.67 (a)
Sardh 16
Sardh 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SARDH 35
  • 99.13 (n)
  • 99.02 (a)
SARDH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sardh 35
  • 85.26 (n)
  • 88.67 (a)
oppossum
(Monodelphis domestica)
Mammalia SARDH 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SARDH 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SARDH 35
  • 77.36 (n)
  • 81.71 (a)
SARDH 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 73 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sardh 35
  • 74.07 (n)
  • 80.91 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12682 35
zebrafish
(Danio rerio)
Actinopterygii sardh 35
  • 70.69 (n)
  • 78.94 (a)
zgc56363 35
sardh 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3626 37
  • 30 (a)
CG6385 37
  • 50 (a)
CG6385 35
  • 56.73 (n)
  • 52.16 (a)
CG6385 36
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007123 35
  • 56.72 (n)
  • 49.77 (a)
worm
(Caenorhabditis elegans)
Secernentea Y106G6H.5 37
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
CSA.2141 36
  • 42 (a)
OneToMany
Species with no ortholog for SARDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SARDH Gene

ENSEMBL:
Gene Tree for SARDH (if available)
TreeFam:
Gene Tree for SARDH (if available)

Paralogs for SARDH Gene

Paralogs for SARDH Gene

Selected SIMAP similar genes for SARDH Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SARDH: view

Variants for SARDH Gene

Sequence variations from dbSNP and Humsavar for SARDH Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs129886 -- 133,663,599(+) ACCTT(C/T)TAGAA utr-variant-3-prime
rs129887 -- 133,664,491(+) GCAAG(C/T)GCTCG intron-variant
rs129888 -- 133,663,325(+) AGGTC(C/G)AGCAA downstream-variant-500B
rs129889 -- 133,677,746(+) TGCCC(A/G)TCTTC intron-variant
rs129890 -- 133,677,232(+) TCTTC(C/G)AAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SARDH Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv894081 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894094 CNV Loss 21882294
nsv894100 CNV Gain 21882294
dgv8332n71 CNV Loss 21882294
nsv894108 CNV Loss 21882294
nsv894110 CNV Loss 21882294
nsv466619 CNV Loss 19166990
dgv8333n71 CNV Loss 21882294
esv998446 CNV Deletion 20482838
nsv512123 CNV Loss 21212237
esv2739171 CNV Deletion 23290073
esv21852 CNV Gain 19812545
nsv511411 CNV Loss 21212237
esv2739172 CNV Deletion 23290073
nsv894113 CNV Loss 21882294
nsv894114 CNV Loss 21882294
nsv482984 CNV Gain 15286789
esv4163 CNV Deletion 18987735
esv2739174 CNV Deletion 23290073
esv2659744 CNV Deletion 23128226
nsv466620 CNV Loss 19166990
nsv469907 CNV Loss 18288195
nsv8576 CNV Gain 18304495
esv2739175 CNV Deletion 23290073
esv2739176 CNV Deletion 23290073
esv2739177 CNV Deletion 23290073
esv995816 CNV Deletion 20482838
esv2739178 CNV Deletion 23290073
nsv894115 CNV Gain 21882294
nsv519503 CNV Gain 19592680
nsv894116 CNV Gain+Loss 21882294
esv2677820 CNV Deletion 23128226
dgv95n68 CNV Loss 17160897
nsv894117 CNV Loss 21882294

Relevant External Links for SARDH Gene

HapMap Linkage Disequilibrium report
SARDH
Human Gene Mutation Database (HGMD)
SARDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARDH Gene

Disorders for SARDH Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SARDH Gene in MalaCards »

(2) Diseases for SARDH Gene including...

(1) OMIM Diseases for SARDH Gene (604455)

UniProtKB/Swiss-Prot

SARDH_HUMAN
  • Sarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. {ECO:0000269 PubMed:10444331, ECO:0000269 PubMed:22825317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for SARDH Gene

Disease -log(P) Hits PubMed IDs
sarcosinemia 96.4 5
myocarditis 42.9 1
dilated cardiomyopathy 24.9 1

Genatlas disease for SARDH Gene

sarcosinemia

Relevant External Links for SARDH

Genetic Association Database (GAD)
SARDH
Human Genome Epidemiology (HuGE) Navigator
SARDH
genes like me logo Genes that share disorders with SARDH: view

No data available for University of Copenhagen DISEASES for SARDH Gene

Publications for SARDH Gene

  1. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (PMID: 10444331) Eschenbrenner M. … Jorns M.S. (Genomics 1999) 2 3 4 23
  2. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B. … Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009) 3 48
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (PMID: 22825317) Bar-joseph I. … Anikster Y. (Hum. Genet. 2012) 3 4
  5. Physical and cDNA mapping in the DBH region of human chromosome 9q34. (PMID: 10686491) Gilbert J.R. … Pericak-Vance M.A. (Hum. Hered. 2000) 3 4

Products for SARDH Gene

Sources for SARDH Gene

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